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| Screening of SLC25A13 genetic mutations associated with Citrin deficiency in Dai, Yi and Han nationalities of Yunnan province |
| 1. Yunnan Population and Family Planning Research Institute，Key Laboratory of Preconception Health in Western China of National Health and Family Planning Commission, Key Laboratory of Fertility Regulation and Minority Birth Health Research of Yunnan Province , Kunming, Yunnan Province, 650021；2. Chongqing Population and Family Planning Science and Technology Research Institute，Key Laboratory of Birth Defects and Reproductive Health of National Health and Family Planning Commission |
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Abstract Objective: To investigate the distribution characteristics of SLC25A13 genetic mutations associated with Citrin deficiency in Dai, Yi and Han nationalities of Yunnan province. Methods：-10 high-frequency mutations of the SLC25A13 gene were detected by allele-specific PCR, and capillary electrophoresis was used for detected amplification product. The genotypes of SLC25A13 gene of 2189 samples were analyzed by GeneMapper software 5 and were verified by Sanger sequencing. Results: CT4 (IVS16ins3kb) and CT8 (4c.851-854del4) mutations of SLC25A13 gene were identified in these three nationalities, and CT2 (c.1638_1660dup23) mutation had been identified in Han nationality only. c.851-854del4 mutation contributed to 75% of the total mutatedalleles in Dai population. The mutation carrier rate of Dai, Yi and Han populations were 1.2% (1/83), 0.44% (1/227), and 1.48% (1/67), respectively. There was no significant difference in mutation carrier rate between Dai or Yi nationality and Han nationality (P>0.05). Theoretically, the incidence of NICCD of the three ethnic groups was 1/27445, 1/206116 and 1/18151, and the total incidence was 1/30667. Conclusion： Citrin deficiency exists in people of Yunnan province widely. Screening of SLC25A13 gene mutationscan can provide evidence for clinical genetic counseling and intervention.
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